Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP490574.RAOd7e3CQryePsRVTLKxZzyV-_eGbUXbG75TEZtPXGBbs130_assertion> ?p ?o ?g. }
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- NP490574.RAOd7e3CQryePsRVTLKxZzyV-_eGbUXbG75TEZtPXGBbs130_assertion type Assertion NP490574.RAOd7e3CQryePsRVTLKxZzyV-_eGbUXbG75TEZtPXGBbs130_head.
- NP490574.RAOd7e3CQryePsRVTLKxZzyV-_eGbUXbG75TEZtPXGBbs130_assertion description "[Missense mutations at position 420 of TNSALP (standard nomenclature), which convert glycine to serine [TNSALP (G420S)] or alanine [TNSALP (G420A)], have been reported in perinatal and childhood HPP, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP490574.RAOd7e3CQryePsRVTLKxZzyV-_eGbUXbG75TEZtPXGBbs130_provenance.
- NP490574.RAOd7e3CQryePsRVTLKxZzyV-_eGbUXbG75TEZtPXGBbs130_assertion evidence source_evidence_literature NP490574.RAOd7e3CQryePsRVTLKxZzyV-_eGbUXbG75TEZtPXGBbs130_provenance.
- NP490574.RAOd7e3CQryePsRVTLKxZzyV-_eGbUXbG75TEZtPXGBbs130_assertion SIO_000772 23039266 NP490574.RAOd7e3CQryePsRVTLKxZzyV-_eGbUXbG75TEZtPXGBbs130_provenance.
- NP490574.RAOd7e3CQryePsRVTLKxZzyV-_eGbUXbG75TEZtPXGBbs130_assertion wasDerivedFrom befree-20140225 NP490574.RAOd7e3CQryePsRVTLKxZzyV-_eGbUXbG75TEZtPXGBbs130_provenance.
- NP490574.RAOd7e3CQryePsRVTLKxZzyV-_eGbUXbG75TEZtPXGBbs130_assertion wasGeneratedBy ECO_0000203 NP490574.RAOd7e3CQryePsRVTLKxZzyV-_eGbUXbG75TEZtPXGBbs130_provenance.